← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-102894800-TTGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=102894800&ref=TTGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM4_Supporting",
"PP5_Very_Strong"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "PAH",
"hgnc_id": 8582,
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"inheritance_mode": "AR",
"pathogenic_score": 17,
"score": 17,
"transcript": "NM_000277.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124902999",
"hgnc_id": null,
"hgvs_c": "n.863-9892_863-9890delATG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 14,
"score": 14,
"transcript": "XR_007063428.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM4_Supporting,PP5_Very_Strong",
"acmg_score": 17,
"allele_count_reference_population": 54,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Phenylketonuria,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:12 O:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 452,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1359,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000277.3",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000553106.6",
"protein_coding": true,
"protein_id": "NP_000268.1",
"strand": false,
"transcript": "NM_000277.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 452,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1359,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553106.6",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000277.3",
"protein_coding": true,
"protein_id": "ENSP00000448059.1",
"strand": false,
"transcript": "ENST00000553106.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1252,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000549111.5",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "n.380_382delTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000549111.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 485,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 410,
"cds_end": null,
"cds_length": 1458,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906695.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576754.1",
"strand": false,
"transcript": "ENST00000906695.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 478,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1437,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906692.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576751.1",
"strand": false,
"transcript": "ENST00000906692.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 458,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 410,
"cds_end": null,
"cds_length": 1377,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906694.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576753.1",
"strand": false,
"transcript": "ENST00000906694.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 452,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1359,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001354304.2",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341233.1",
"strand": false,
"transcript": "NM_001354304.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 452,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": 459,
"cds_end": null,
"cds_length": 1359,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906693.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576752.1",
"strand": false,
"transcript": "ENST00000906693.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 447,
"aa_ref": "IK",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 542,
"cds_end": null,
"cds_length": 1344,
"cds_start": 269,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000307000.7",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.269_271delTCA",
"hgvs_p": "p.Ile90del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303500.2",
"strand": false,
"transcript": "ENST00000307000.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 416,
"aa_ref": "IK",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1251,
"cds_start": 176,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906696.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.176_178delTCA",
"hgvs_p": "p.Ile59del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576755.1",
"strand": false,
"transcript": "ENST00000906696.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 148,
"aa_ref": "IK",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 652,
"cdna_start": 270,
"cds_end": null,
"cds_length": 447,
"cds_start": 266,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000550978.6",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.266_268delTCA",
"hgvs_p": "p.Ile89del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489016.1",
"strand": false,
"transcript": "ENST00000550978.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 135,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 675,
"cdna_start": 553,
"cds_end": null,
"cds_length": 408,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000551337.5",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447620.1",
"strand": false,
"transcript": "ENST00000551337.5",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 116,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": 639,
"cds_end": null,
"cds_length": 352,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000546844.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446658.1",
"strand": false,
"transcript": "ENST00000546844.1",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 240,
"aa_ref": "IK",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 400,
"cds_end": null,
"cds_length": 723,
"cds_start": 284,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017019370.2",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.284_286delTCA",
"hgvs_p": "p.Ile95del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874859.1",
"strand": false,
"transcript": "XM_017019370.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 361,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906697.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "c.168+17988_168+17990delTCA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576756.1",
"strand": false,
"transcript": "ENST00000906697.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000548677.2",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "n.371_373delTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000548677.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 472,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000548928.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "n.206_208delTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000548928.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000551988.5",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "n.373_375delTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000551988.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1160,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007063428.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124902999",
"hgvs_c": "n.863-9892_863-9890delATG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007063428.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 189,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635500.1",
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"hgvs_c": "n.*63_*65delTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000635500.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs62508727",
"effect": "disruptive_inframe_deletion",
"frequency_reference_population": 0.000033456876,
"gene_hgnc_id": 8582,
"gene_symbol": "PAH",
"gnomad_exomes_ac": 35,
"gnomad_exomes_af": 0.0000239426,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 19,
"gnomad_genomes_af": 0.000124844,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Phenylketonuria|not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.297,
"pos": 102894800,
"ref": "TTGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000277.3"
}
]
}